山东汉族人群CYBA基因多态性与子痫前期遗传易感性的研究

发布时间：2018-04-14 10:34

  本文选题：CYBA多态性 + 子痫前期　； 参考：《青岛大学》2017年硕士论文

【摘要】：目的:本研究主要对山东汉族人群烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶p22phox亚基CYBA基因rs9932581和rs1049255位点多态性与子痫前期(Preeclampsia,PE)遗传易感性进行相关性分析,旨在为PE的发病机制提供新的理论依据。方法:依据PE的诊断标准,我们主要收集了来自青岛大学附属医院、青岛市妇女儿童医院、临沂市人民医院、烟台山医院、济宁附属医院、聊城市人民医院、淄博市妇幼保健院等产科住院妊娠妇女的血清标本,其中1029例入选为PE组和1400例正常健康孕妇入选为对照组。所选取的研究对象均无严重的器质性疾病及产科并发症等。常规采集PE组及对照组外周肘静脉血2 m L(EDTA抗凝),待充分混匀后取300 ul全血分装于1.5 m L的EP管内,保存于4℃冰箱中,48 h内进行全血基因组DNA提取,置于-20℃冰箱保存待用。应用Taqman探针实时荧光定量PCR方法,检测CYBA基因rs9932581和rs1049255位点多态性的基因分型;采用Hardy-Weinberg遗传平衡对对照组群体代表性进行分析;采用独立性t检验或非参数检验进行两组之间一般临床资料的差异比较;采用Pearson-?2检验进行两组之间基因型及等位基因频率分布的差异比较;相对风险度用比值比和95%的可信区间来表示,当双侧P值小于0.05时表示有统计学意义。结果:对照组中CYBA基因rs9932581和rs1049255位点多态性的基因分布符合Hardy-Weinberg遗传平衡检验(rs9932581:χ2=0.269,P=0.604;rs1049255:χ2=0.198,P=0.656),说明本实验研究对象具有良好的群体代表性。对PE组和对照组的人口统计学及临床资料进行比较,结果显示在年龄、初潮年龄、孕次和流产次数等方面无显著性差异(p(29)0.05);而在孕周、血压、白细胞及中性粒细胞计数等方面具有显著性差异(p(27)0.05)。两组间CYBA基因rs9932581和rs1049255多态性的基因型及等位基因频率分布均无显著性差异(rs9932581,基因型χ2=1.444,P=0.486,等位基因χ2=0.164,P=0.686,OR=1.024,95%CI=0.913-1.148;rs1049255,基因型χ2=4.637,P=0.098,等位基因χ2=0.686,P=0.407,OR=0.952,95%CI=0.847-1.070);轻度/重度PE和早发型/晚发型PE分别与对照组进行比较,发现其基因型及等位基因分布亦无显著性差异(p(29)0.05)。结论:本实验研究结果表明,山东汉族人群CYBA基因rs9932581和rs1049255位点多态性与轻度/重度PE、早发型/晚发型PE的发生没有相关性;山东汉族人群CYBA基因rs9932581和rs1049255位点多态性与PE的发病可能不存在关联性。但是该基因位点多态性在其他种群中还有待进一步验证。为了从基因的功能学及遗传学角度对PE的发病机制进行进一步的探究,需要扩大样本数量、收集多个地域的研究对象,并且探讨不同基因在多种族人群中的作用,从而发现新的PE易感基因以及为该病的早期预防、早期诊断及早期治疗提供新的理论基础。
[Abstract]:Objective: to investigate the relationship between the polymorphisms of rs9932581 and rs1049255 loci in the p22phox subunit of nicotinamide adenosine dinucleotide phosphate (NADPH) oxidase and preeclampsia preeclampsis (PEP) genetic susceptibility in Shandong Han population.The aim is to provide a new theoretical basis for the pathogenesis of PE.Methods: according to the diagnostic criteria of PE, we collected mainly from affiliated hospitals of Qingdao University, Qingdao Women and Children Hospital, Linyi people's Hospital, Yantai Mountain Hospital, Jining affiliated Hospital and Liaocheng people's Hospital.The serum samples of pregnant women in maternity department such as Zibo Maternal and Child Health Hospital were collected, of which 1029 cases were selected as PE group and 1400 normal pregnant women as control group.No serious organic diseases or obstetrical complications were found in the selected subjects.The peripheral blood of PE group and control group were collected with 2 m L(EDTA anticoagulant. After fully mixing, 300ul whole blood was divided into 1.5 mL EP tube and stored in refrigerator at 4 鈩，

本文编号：1748958